A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
Studies on gene expression in calvaria and serum levels of insulin-like growth factor-I and bone Gla protein in the methimazole-induced congenital hypothyroid rat.
We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).
Neuroprotective activity of cannabinoid receptor-2 against oxidative stress and apoptosis in rat pups having experimentally-induced congenital hypothyroidism.
A similar patterns of decreased NADPH-d labeled neurons in the wS1/M1 cortices occur in the processes of nitrergic neurons in both congenital hypothyroidism and whisker deprivation.
Evidence of DUOX involvement in thyroidal H(2)O(2) production came from the identification of a DUOX2 nonsense homozygote mutation, which resulted in the absence of all functional domains of the protein, in a patient with permanent and severe congenital hypothyroidism (CH).
<b>Objective:</b> We aimed to identify <i>DUOX1/DUOXA1</i> mutations and explore their role in the development of CH by investigating their functional impacts on H<sub>2</sub>O<sub>2</sub> generation.
Subsequent studies have revealed a homozygous DUOX1 mutation (c.1823-1G>C) resulting in aberrant splicing and a protein truncation (p.Val607Aspfs*43), which segregates with CH in this kindred.
The identification of DUOXA genes has important implications for studies of the molecular mechanisms controlling DUOX expression and the molecular genetics of congenital hypothyroidism.